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This report includes a patient with an inherited pericentric inversion of chromosome No. 2 in addition to a Robertsonian translocation resulting in trisomy for chromosome 13q. The chromosomal constitution of the proband was 46,XX,inv(2) (pter leads to p11 : : q14 leads to p11 : : q14 leads to qter); t(13,14) (13qter leads to 13p11 : : 14q11 leads to 14qter). Sequential QFQ, RFA and GTG banding techniques were employed on the chromosomes of all family members. The chromosomal constitutions of the father and his first child were normal while the mother had an inversion of chromosome No. 2 [46,XX,inv(2) (pter leads to p11 : : q14 leads to p11 : : q14 leads to qter)]. The proband inherited this abnormal chromosome. In addition, she had a de novo Robertsonian translocation involving chromosomes 13q and 14q resulting in trisomy of chromosome 13q.
R S Verma, and
H Dosik, and
I B Wexler
November 1970,
American journal of human genetics,
R S Verma, and
H Dosik, and
I B Wexler
June 2005,
Prenatal diagnosis,
R S Verma, and
H Dosik, and
I B Wexler
January 1989,
Annales de genetique,
R S Verma, and
H Dosik, and
I B Wexler
December 1984,
Journal of medical genetics,
R S Verma, and
H Dosik, and
I B Wexler
January 1983,
Human genetics,
R S Verma, and
H Dosik, and
I B Wexler
June 1991,
Journal of medical genetics,
R S Verma, and
H Dosik, and
I B Wexler
May 1976,
The Tohoku journal of experimental medicine,
R S Verma, and
H Dosik, and
I B Wexler
February 1994,
American journal of medical genetics,
R S Verma, and
H Dosik, and
I B Wexler
April 1977,
Pediatria polska,
R S Verma, and
H Dosik, and
I B Wexler
December 1978,
Journal de genetique humaine,
